ClinVar Miner

Variants with conflicting interpretations between Color Health, Inc and Invitae

Minimum review status of the submission from Color Health, Inc: Collection method of the submission from Color Health, Inc:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
27274 471 0 70 27 1 13 111

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

pathogenic likely pathogenic uncertain significance likely benign benign other
pathogenic 0 2 0 0 0 0
likely pathogenic 31 0 6 0 0 0
uncertain significance 2 5 0 7 1 0
likely benign 0 0 19 0 31 0
benign 0 0 0 6 0 1

All variants with conflicting interpretations #

Total variants: 111
Download table as spreadsheet
HGVS dbSNP
NM_000169.2(GLA):c.1067G>A (p.Arg356Gln) rs869312163
NM_000169.2(GLA):c.335G>A (p.Arg112His) rs372966991
NM_000169.2(GLA):c.755G>C (p.Arg252Thr) rs147026639
NM_000169.3(GLA):c.1153A>G (p.Thr385Ala) rs397515869
NM_000169.3(GLA):c.196G>C (p.Glu66Gln) rs104894833
NM_000169.3(GLA):c.640-801G>A rs199473684
NM_000169.3(GLA):c.865A>G (p.Ile289Val) rs140329381
NM_000169.3(GLA):c.937G>T (p.Asp313Tyr) rs28935490
NM_000527.4(LDLR):c.-135C>G
NM_000527.4(LDLR):c.-217C>T rs17249141
NM_000527.4(LDLR):c.1002C>T (p.Ile334=) rs762853526
NM_000527.4(LDLR):c.1078G>C (p.Asp360His) rs777926251
NM_000527.4(LDLR):c.1167G>A (p.Thr389=) rs139066906
NM_000527.4(LDLR):c.1323C>T (p.Ile441=) rs5933
NM_000527.4(LDLR):c.1381G>A (p.Gly461Ser) rs193922568
NM_000527.4(LDLR):c.1836C>A (p.Ala612=) rs143872778
NM_000527.4(LDLR):c.2320G>A (p.Asp774Asn) rs138190838
NM_000527.4(LDLR):c.2324T>C (p.Val775Ala) rs780300776
NM_000527.4(LDLR):c.2358C>T (p.Ser786=) rs183255090
NM_000527.4(LDLR):c.2388C>T (p.Ile796=) rs543852919
NM_000527.4(LDLR):c.2389+8C>T rs747170426
NM_000527.4(LDLR):c.345C>G (p.Arg115=) rs150144164
NM_000527.4(LDLR):c.694+9G>A rs34093283
NM_000527.4(LDLR):c.817+9T>C
NM_000527.4(LDLR):c.828C>T (p.Cys276=) rs146651743
NM_000527.4(LDLR):c.858C>T (p.Ser286=) rs140241383
NM_000527.4(LDLR):c.861C>T (p.Gly287=) rs770191650
NM_000527.5(LDLR):c.1024G>A (p.Asp342Asn)
NM_000527.5(LDLR):c.1049G>C (p.Arg350Pro) rs875989914
NM_000527.5(LDLR):c.1055G>A (p.Cys352Tyr) rs193922566
NM_000527.5(LDLR):c.1061A>T (p.Asp354Val) rs755449669
NM_000527.5(LDLR):c.1133A>C (p.Gln378Pro) rs730882098
NM_000527.5(LDLR):c.1201C>G (p.Leu401Val)
NM_000527.5(LDLR):c.1247G>A (p.Arg416Gln) rs773658037
NM_000527.5(LDLR):c.1301C>T (p.Thr434Met) rs745343524
NM_000527.5(LDLR):c.1302G>A (p.Thr434=) rs534782075
NM_000527.5(LDLR):c.1307T>C (p.Val436Ala) rs779732323
NM_000527.5(LDLR):c.1359-5C>G rs531005522
NM_000527.5(LDLR):c.1414G>T (p.Asp472Tyr) rs730882102
NM_000527.5(LDLR):c.1444G>A (p.Asp482Asn) rs139624145
NM_000527.5(LDLR):c.1474G>A (p.Asp492Asn)
NM_000527.5(LDLR):c.1474G>C (p.Asp492His) rs373646964
NM_000527.5(LDLR):c.1567G>A (p.Val523Met)
NM_000527.5(LDLR):c.1576C>T (p.Pro526Ser) rs730882106
NM_000527.5(LDLR):c.1690A>G (p.Asn564Asp) rs397509365
NM_000527.5(LDLR):c.1702C>G (p.Leu568Val) rs746959386
NM_000527.5(LDLR):c.1706-10G>A
NM_000527.5(LDLR):c.1720C>T (p.Arg574Cys) rs185098634
NM_000527.5(LDLR):c.1747C>T (p.His583Tyr) rs730882109
NM_000527.5(LDLR):c.1764C>T (p.Ile588=) rs778595540
NM_000527.5(LDLR):c.1783C>T (p.Arg595Trp)
NM_000527.5(LDLR):c.1784G>A (p.Arg595Gln) rs201102492
NM_000527.5(LDLR):c.1837G>A (p.Val613Ile)
NM_000527.5(LDLR):c.1845G>A (p.Glu615=) rs879255047
NM_000527.5(LDLR):c.1867A>G (p.Ile623Val) rs555292896
NM_000527.5(LDLR):c.1879G>A (p.Ala627Thr) rs879255066
NM_000527.5(LDLR):c.1897C>T (p.Arg633Cys)
NM_000527.5(LDLR):c.190+4A>T rs769446356
NM_000527.5(LDLR):c.1911C>T (p.Ser637=) rs373570349
NM_000527.5(LDLR):c.1955T>C (p.Met652Thr) rs875989936
NM_000527.5(LDLR):c.1977C>A (p.Thr659=) rs72658866
NM_000527.5(LDLR):c.1987+6G>C
NM_000527.5(LDLR):c.1988-5C>G rs375877599
NM_000527.5(LDLR):c.2140+5G>A
NM_000527.5(LDLR):c.2177C>T (p.Thr726Ile)
NM_000527.5(LDLR):c.223T>A (p.Cys75Ser) rs879254439
NM_000527.5(LDLR):c.2251C>T (p.Arg751Trp)
NM_000527.5(LDLR):c.2289G>T (p.Glu763Asp) rs774698247
NM_000527.5(LDLR):c.2479G>A (p.Val827Ile) rs137853964
NM_000527.5(LDLR):c.2548-12A>G rs771336748
NM_000527.5(LDLR):c.268G>A (p.Asp90Asn) rs749038326
NM_000527.5(LDLR):c.284G>T (p.Cys95Phe) rs879254457
NM_000527.5(LDLR):c.314-2A>C rs879254470
NM_000527.5(LDLR):c.352G>T (p.Asp118Tyr) rs730882080
NM_000527.5(LDLR):c.400T>C (p.Cys134Arg) rs875989900
NM_000527.5(LDLR):c.401G>T (p.Cys134Phe) rs879254514
NM_000527.5(LDLR):c.427T>C (p.Cys143Arg) rs875989901
NM_000527.5(LDLR):c.507C>T (p.Asn169=) rs146354103
NM_000527.5(LDLR):c.631C>T (p.His211Tyr) rs771917370
NM_000527.5(LDLR):c.682G>A (p.Glu228Lys)
NM_000527.5(LDLR):c.694+1G>A rs879254646
NM_000527.5(LDLR):c.757C>T (p.Arg253Trp)
NM_000527.5(LDLR):c.769C>T (p.Arg257Trp)
NM_000527.5(LDLR):c.782G>T (p.Cys261Phe) rs121908040
NM_000527.5(LDLR):c.858C>A (p.Ser286Arg) rs140241383
NM_000527.5(LDLR):c.862G>A (p.Glu288Lys) rs368657165
NM_000527.5(LDLR):c.917C>T (p.Ser306Leu) rs11547917
NM_003242.6(TGFBR2):c.1015C>T (p.Arg339Trp) rs761991787
NM_003242.6(TGFBR2):c.1159G>T (p.Val387Leu) rs35766612
NM_003242.6(TGFBR2):c.1525-6C>G rs748388518
NM_003242.6(TGFBR2):c.383del (p.Lys128fs) rs79375991
NM_003242.6(TGFBR2):c.4G>T (p.Gly2Cys) rs565502802
NM_003242.6(TGFBR2):c.550A>G (p.Ile184Val)
NM_003242.6(TGFBR2):c.690G>A (p.Thr230=) rs201560560
NM_003242.6(TGFBR2):c.915C>T (p.Leu305=) rs146030104
NM_003242.6(TGFBR2):c.927G>A (p.Thr309=) rs756625146
NM_003242.6(TGFBR2):c.95-7T>C rs764533083
NM_004612.4(TGFBR1):c.1125A>C (p.Thr375=) rs7861780
NM_004612.4(TGFBR1):c.192A>G (p.Lys64=) rs112051451
NM_004612.4(TGFBR1):c.214A>T (p.Ile72Leu) rs111513627
NM_004612.4(TGFBR1):c.343+3A>G rs374717754
NM_004612.4(TGFBR1):c.470G>C (p.Arg157Pro)
NM_004612.4(TGFBR1):c.516A>G (p.Ser172=)
NM_004612.4(TGFBR1):c.575-5T>G rs1025639851
NM_005902.4(SMAD3):c.1117C>T (p.Arg373Cys) rs863223746
NM_005902.4(SMAD3):c.207-10G>A rs201912204
NM_005902.4(SMAD3):c.220C>T (p.Arg74Trp) rs1343295267
NM_005902.4(SMAD3):c.27C>T (p.Pro9=) rs765454938
NM_005902.4(SMAD3):c.372C>A (p.Pro124=) rs765624013
NM_005902.4(SMAD3):c.483C>T (p.Pro161=) rs202203039
NM_005902.4(SMAD3):c.533-13_533-10del

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